Key result
Incidental hypertransaminasaemia in children signals occult muscular dystrophy months before clinical diagnosis.
Why the study?
Long-term elevation of transaminase levels may indicate occult muscle disease, but this is often unrecognized leading to unnecessary invasive tests.
Observational (n=21)
Long-term elevation of transaminase levels in children may indicate occult muscle disease, highlighting the need to check creatine phosphokinase before invasive liver tests.
Twenty-one patients with incidental hypertransaminasaemia who were eventually diagnosed as muscular dystrophy are described. There were two females and 19 males aged between 2 and 11 years [mean (SD) 6.7 (3.4) y]. Serum alanine and aspartate transaminase levels were between 73 and 595 IU/L (30-35) and 68 and 550 IU/L (30-35), respectively. Muscle disease was suspected when creatine phosphokinase levels were elevated and confirmed in each patient by muscle biopsy. The time interval between incidental hypertransaminasemia and the diagnosis of muscle disease was between 3 and 12 months. Eleven patients were diagnosed as Becker's muscle dystrophy, eight as Duchenne muscle dystrophy and two had sarcoglycanopathy. Long-term elevation of transaminase levels might be a sign of occult muscle disease. Invasive tests such as liver biopsy should not be performed in patients with unexplained hypertransaminasaemia without first determining creatinine phosphokinase levels.
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Urgancı et al. (2006) conducted an observational in Incidental hypertransaminasaemia (n=21). Incidental hypertransaminasaemia was evaluated on Diagnosis of muscular dystrophy. Incidental hypertransaminasaemia in 21 children was a sign of occult muscle disease, leading to diagnoses of muscular dystrophy 3 to 12 months later.
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